Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

Tasha E. Fingerlin; Elissa Murphy; Weiming Zhang; Anna L. Peljto; Kevin K. Brown; Mark P. Steele; James E. Loyd; Gregory P. Cosgrove; David Lynch; Steve Groshong; Harold R. Collard; Paul J. Wolters; Williamson Z. Bradford; Karl Kossen; Scott D. Seiwert; Roland M. Du Bois; Christine Kim Garcia; Megan S. Devine; Gunnar Gudmundsson; Helgi J. Isaksson; Naftali Kaminski; Yingze Zhang; Kevin F. Gibson; Lisa H. Lancaster; Joy D. Cogan; Wendi R. Mason; Toby M. Maher; Philip L. Molyneaux; Athol U. Wells; Miriam F. Moffatt; Moises Selman; Annie Pardo; Dong Soon Kim; James D. Crapo; Barry J. Make; Elizabeth A. Regan; Dinesha S. Walek; Jerry J. Daniel; Yoichiro Kamatani; Diana Zelenika; Keith Smith; David McKean; Brent S. Pedersen; Janet Talbert; Raven N. Kidd; Cheryl R. Markin; Kenneth B. Beckman; Mark Lathrop; Marvin I. Schwarz; David A. Schwartz

doi:10.1038/ng.2609

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

Tasha E. Fingerlin, Elissa Murphy, Weiming Zhang, Anna L. Peljto, Kevin K. Brown, Mark P. Steele, James E. Loyd, Gregory P. Cosgrove, David Lynch, Steve Groshong, Harold R. Collard, Paul J. Wolters, Williamson Z. Bradford, Karl Kossen, Scott D. Seiwert, Roland M. Du Bois, Christine Kim Garcia, Megan S. Devine, Gunnar Gudmundsson, Helgi J. IsakssonNaftali Kaminski, Yingze Zhang, Kevin F. Gibson, Lisa H. Lancaster, Joy D. Cogan, Wendi R. Mason, Toby M. Maher, Philip L. Molyneaux, Athol U. Wells, Miriam F. Moffatt, Moises Selman, Annie Pardo, Dong Soon Kim, James D. Crapo, Barry J. Make, Elizabeth A. Regan, Dinesha S. Walek, Jerry J. Daniel, Yoichiro Kamatani, Diana Zelenika, Keith Smith, David McKean, Brent S. Pedersen, Janet Talbert, Raven N. Kidd, Cheryl R. Markin, Kenneth B. Beckman, Mark Lathrop, Marvin I. Schwarz, David A. Schwartz

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Abstract

We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 region near TERC, and we identified seven newly associated loci (P _meta = 2.4 × 10^-8 to 1.1 × 10^-19), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13) and chromosomal regions 7q22 and 15q14-15. Our results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs.

Original language	English (US)
Pages (from-to)	613-620
Number of pages	8
Journal	Nature Genetics
Volume	45
Issue number	6
DOIs	https://doi.org/10.1038/ng.2609
State	Published - Jun 2013

Bibliographical note

Funding Information:
We gratefully acknowledge the individuals who participated in the studies that contributed to this work. This research was supported by the National Heart, Lung, and Blood Institute (R01-HL095393, R01-HL097163, P01-HL092870, RC2-HL101715, U01-HL089897, U01-HL089856, U01-HL108642 and P50-HL0894932), the Veterans Administration (1I01BX001534), the Dorothy P. and Richard P. Simmons Center and InterMune.

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Fingerlin, T. E., Murphy, E., Zhang, W., Peljto, A. L., Brown, K. K., Steele, M. P., Loyd, J. E., Cosgrove, G. P., Lynch, D., Groshong, S., Collard, H. R., Wolters, P. J., Bradford, W. Z., Kossen, K., Seiwert, S. D., Du Bois, R. M., Garcia, C. K., Devine, M. S., Gudmundsson, G., ... Schwartz, D. A. (2013). Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nature Genetics, 45(6), 613-620. https://doi.org/10.1038/ng.2609

Fingerlin, TE, Murphy, E, Zhang, W, Peljto, AL, Brown, KK, Steele, MP, Loyd, JE, Cosgrove, GP, Lynch, D, Groshong, S, Collard, HR, Wolters, PJ, Bradford, WZ, Kossen, K, Seiwert, SD, Du Bois, RM, Garcia, CK, Devine, MS, Gudmundsson, G, Isaksson, HJ, Kaminski, N, Zhang, Y, Gibson, KF, Lancaster, LH, Cogan, JD, Mason, WR, Maher, TM, Molyneaux, PL, Wells, AU, Moffatt, MF, Selman, M, Pardo, A, Kim, DS, Crapo, JD, Make, BJ, Regan, EA, Walek, DS, Daniel, JJ, Kamatani, Y, Zelenika, D, Smith, K, McKean, D, Pedersen, BS, Talbert, J, Kidd, RN, Markin, CR, Beckman, KB, Lathrop, M, Schwarz, MI & Schwartz, DA 2013, 'Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis', Nature Genetics, vol. 45, no. 6, pp. 613-620. https://doi.org/10.1038/ng.2609

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title = "Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis",

abstract = "We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 region near TERC, and we identified seven newly associated loci (P meta = 2.4 × 10-8 to 1.1 × 10-19), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13) and chromosomal regions 7q22 and 15q14-15. Our results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs.",

author = "Fingerlin, {Tasha E.} and Elissa Murphy and Weiming Zhang and Peljto, {Anna L.} and Brown, {Kevin K.} and Steele, {Mark P.} and Loyd, {James E.} and Cosgrove, {Gregory P.} and David Lynch and Steve Groshong and Collard, {Harold R.} and Wolters, {Paul J.} and Bradford, {Williamson Z.} and Karl Kossen and Seiwert, {Scott D.} and {Du Bois}, {Roland M.} and Garcia, {Christine Kim} and Devine, {Megan S.} and Gunnar Gudmundsson and Isaksson, {Helgi J.} and Naftali Kaminski and Yingze Zhang and Gibson, {Kevin F.} and Lancaster, {Lisa H.} and Cogan, {Joy D.} and Mason, {Wendi R.} and Maher, {Toby M.} and Molyneaux, {Philip L.} and Wells, {Athol U.} and Moffatt, {Miriam F.} and Moises Selman and Annie Pardo and Kim, {Dong Soon} and Crapo, {James D.} and Make, {Barry J.} and Regan, {Elizabeth A.} and Walek, {Dinesha S.} and Daniel, {Jerry J.} and Yoichiro Kamatani and Diana Zelenika and Keith Smith and David McKean and Pedersen, {Brent S.} and Janet Talbert and Kidd, {Raven N.} and Markin, {Cheryl R.} and Beckman, {Kenneth B.} and Mark Lathrop and Schwarz, {Marvin I.} and Schwartz, {David A.}",

note = "Funding Information: We gratefully acknowledge the individuals who participated in the studies that contributed to this work. This research was supported by the National Heart, Lung, and Blood Institute (R01-HL095393, R01-HL097163, P01-HL092870, RC2-HL101715, U01-HL089897, U01-HL089856, U01-HL108642 and P50-HL0894932), the Veterans Administration (1I01BX001534), the Dorothy P. and Richard P. Simmons Center and InterMune.",

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month = jun,

doi = "10.1038/ng.2609",

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AU - Fingerlin, Tasha E.

AU - Murphy, Elissa

AU - Zhang, Weiming

AU - Peljto, Anna L.

AU - Brown, Kevin K.

AU - Steele, Mark P.

AU - Loyd, James E.

AU - Cosgrove, Gregory P.

AU - Lynch, David

AU - Groshong, Steve

AU - Collard, Harold R.

AU - Wolters, Paul J.

AU - Bradford, Williamson Z.

AU - Kossen, Karl

AU - Seiwert, Scott D.

AU - Du Bois, Roland M.

AU - Garcia, Christine Kim

AU - Devine, Megan S.

AU - Gudmundsson, Gunnar

AU - Isaksson, Helgi J.

AU - Kaminski, Naftali

AU - Zhang, Yingze

AU - Gibson, Kevin F.

AU - Lancaster, Lisa H.

AU - Cogan, Joy D.

AU - Mason, Wendi R.

AU - Maher, Toby M.

AU - Molyneaux, Philip L.

AU - Wells, Athol U.

AU - Moffatt, Miriam F.

AU - Selman, Moises

AU - Pardo, Annie

AU - Kim, Dong Soon

AU - Crapo, James D.

AU - Make, Barry J.

AU - Regan, Elizabeth A.

AU - Walek, Dinesha S.

AU - Daniel, Jerry J.

AU - Kamatani, Yoichiro

AU - Zelenika, Diana

AU - Smith, Keith

AU - McKean, David

AU - Pedersen, Brent S.

AU - Talbert, Janet

AU - Kidd, Raven N.

AU - Markin, Cheryl R.

AU - Beckman, Kenneth B.

AU - Lathrop, Mark

AU - Schwarz, Marvin I.

AU - Schwartz, David A.

N1 - Funding Information: We gratefully acknowledge the individuals who participated in the studies that contributed to this work. This research was supported by the National Heart, Lung, and Blood Institute (R01-HL095393, R01-HL097163, P01-HL092870, RC2-HL101715, U01-HL089897, U01-HL089856, U01-HL108642 and P50-HL0894932), the Veterans Administration (1I01BX001534), the Dorothy P. and Richard P. Simmons Center and InterMune.

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N2 - We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 region near TERC, and we identified seven newly associated loci (P meta = 2.4 × 10-8 to 1.1 × 10-19), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13) and chromosomal regions 7q22 and 15q14-15. Our results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs.

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Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

Abstract

Bibliographical note

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